List of variants in gene CEP164 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)	rs147398904	0.00111
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)	rs780849567	0.00002
NM_014956.5(CEP164):c.2233del (p.Glu745fs)	rs1592354614
NM_014956.5(CEP164):c.262T>C (p.Cys88Arg)	rs1057521785
NM_014956.5(CEP164):c.2844+5G>C	rs2136434803
NM_014956.5(CEP164):c.381dup (p.Lys128fs)	rs747914869

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